Nienke E Verbeek

Affiliations

Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

Publications (3)

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Katrine M Johannesen , Sumaiya Iqbal , Milena Guazzi , Nazanin A Mohammadi , Eduardo Pérez-Palma , Elise Schaefer , Anne De Saint Martin , Marie Therese Abiwarde , Amy McTague , Roser Pons , Amelie Piton , Manju A Kurian , Gautam Ambegaonkar , Helen Firth , Alba Sanchis-Juan , Marie Deprez , Katrien Jansen , Liesbeth De Waele , Eva H Briltra , Nienke E Verbeek , Marjan van Kempen , Walid Fazeli , Pasquale Striano , Federico Zara , Gerhard Visser , Hilde M H Braakman , Martin Haeusler , Miriam Elbracht , Ulvi Vaher , Thomas Smol , Johannes R Lemke , Konrad Platzer , Joanna Kennedy , Karl Martin Klein , Ping Yee Billie Au , Kimberly Smyth , Julie Kaplan , Morgan Thomas , Malin K Dewenter , Argirios Dinopoulos , Arthur J Campbell , Dennis Lal , Damien Lederer , Vivian W Y Liao , Philip K Ahring , Rikke S Møller , Elena Gardella

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

Brain : a journal of neurology

Avec: Kari A Mattison , Gilles Tossing , Fred Mulroe , Callum Simmons , Kameryn M Butler , Alison Schreiber , Adnan Alsadah , Derek E Neilson , Karin Naess , Anna Wedell , Anna Wredenberg , Arthur Sorlin , Emma McCann , George J Burghel , Beatriz Menendez , George E Hoganson , Lorenzo D Botto , Francis M Filloux , Ángel Aledo-Serrano , Antonio Gil-Nagel , Katrina Tatton-Brown , Nienke E Verbeek , Bert van der Zwaag , Kyrieckos A Aleck , Andrew C Fazenbaker , Jorune Balciuniene , Holly A Dubbs , Eric D Marsh , Kathryn Garber , Jakob Ek , Morten Duno , Christina E Hoei-Hansen , Matthew A Deardorff , Gordana Raca , Catherine Quindipan , Michele van Hirtum-Das , Jeroen Breckpot , Trine Bjørg Hammer , Rikke S Møller , Andrea Whitney , Andrew G L Douglas , Mira Kharbanda , Nicola Brunetti-Pierri , Manuela Morleo , Vincenzo Nigro , Halie J May , James X Tao , Emanuela Argilli , Elliot H Sherr , William B Dobyns , Auteur inconnu , Richard A Baines , Jim Warwicker , J Alex Parker , Siddharth Banka , Philippe M Campeau , Andrew Escayg

The different clinical facets of

Frontiers in cell and developmental biology

Avec: Ilaria Parenti , Elsa Leitão , Alma Kuechler , Laurent Villard , Cyril Goizet , Cécile Courdier , Allan Bayat , Alessandra Rossi , Sophie Julia , Ange-Line Bruel , Frédéric Tran Mau-Them , Sophie Nambot , Daphné Lehalle , Marjolaine Willems , James Lespinasse , Jamal Ghoumid , Roseline Caumes , Thomas Smol , Salima El Chehadeh , Elise Schaefer , Marie-Thérèse Abi-Warde , Boris Keren , Alexandra Afenjar , Anne-Claude Tabet , Jonathan Levy , Anna Maruani , Ángel Aledo-Serrano , Waltraud Garming , Clara Milleret-Pignot , Anna Chassevent , Marije Koopmans , Nienke E Verbeek , Richard Person , Rebecca Belles , Gary Bellus , Bonnie A Salbert , Frank J Kaiser , Laure Mazzola , Philippe Convers , Laurine Perrin , Amélie Piton , Gert Wiegand , Andrea Accogli , Francesco Brancati , Fabio Benfenati , Nicolas Chatron , David Lewis-Smith , Rhys H Thomas , Federico Zara , Pasquale Striano , Gaetan Lesca , Christel Depienne

Réseau de co-auteurs

Elise Schaefer 2 collaborations

Pasquale Striano 2 collaborations

Federico Zara 2 collaborations

Thomas Smol 2 collaborations

Rikke S Møller 2 collaborations

Ángel Aledo-Serrano 2 collaborations

Katrine M Johannesen 1 collaboration

Sumaiya Iqbal 1 collaboration

Milena Guazzi 1 collaboration

Nazanin A Mohammadi 1 collaboration

Eduardo Pérez-Palma 1 collaboration

Anne De Saint Martin 1 collaboration

Marie Therese Abiwarde 1 collaboration

Amy McTague 1 collaboration

Roser Pons 1 collaboration

Amelie Piton 1 collaboration

Manju A Kurian 1 collaboration

Gautam Ambegaonkar 1 collaboration

Helen Firth 1 collaboration

Alba Sanchis-Juan 1 collaboration

Marie Deprez 1 collaboration

Katrien Jansen 1 collaboration

Liesbeth De Waele 1 collaboration

Eva H Briltra 1 collaboration

Marjan van Kempen 1 collaboration

Walid Fazeli 1 collaboration

Gerhard Visser 1 collaboration

Hilde M H Braakman 1 collaboration

Martin Haeusler 1 collaboration

Miriam Elbracht 1 collaboration

Ulvi Vaher 1 collaboration

Johannes R Lemke 1 collaboration

Konrad Platzer 1 collaboration

Joanna Kennedy 1 collaboration

Karl Martin Klein 1 collaboration

Ping Yee Billie Au 1 collaboration

Kimberly Smyth 1 collaboration

Julie Kaplan 1 collaboration

Morgan Thomas 1 collaboration

Malin K Dewenter 1 collaboration

Argirios Dinopoulos 1 collaboration

Arthur J Campbell 1 collaboration

Dennis Lal 1 collaboration

Damien Lederer 1 collaboration

Vivian W Y Liao 1 collaboration

Philip K Ahring 1 collaboration

Elena Gardella 1 collaboration

Kari A Mattison 1 collaboration

Gilles Tossing 1 collaboration

Fred Mulroe 1 collaboration

Callum Simmons 1 collaboration

Kameryn M Butler 1 collaboration

Alison Schreiber 1 collaboration

Adnan Alsadah 1 collaboration

Derek E Neilson 1 collaboration

Karin Naess 1 collaboration

Anna Wedell 1 collaboration

Anna Wredenberg 1 collaboration

Arthur Sorlin 1 collaboration

Emma McCann 1 collaboration

George J Burghel 1 collaboration

Beatriz Menendez 1 collaboration

George E Hoganson 1 collaboration

Lorenzo D Botto 1 collaboration

Francis M Filloux 1 collaboration

Antonio Gil-Nagel 1 collaboration

Katrina Tatton-Brown 1 collaboration

Bert van der Zwaag 1 collaboration

Kyrieckos A Aleck 1 collaboration

Andrew C Fazenbaker 1 collaboration

Jorune Balciuniene 1 collaboration

Holly A Dubbs 1 collaboration

Eric D Marsh 1 collaboration

Kathryn Garber 1 collaboration

Jakob Ek 1 collaboration

Morten Duno 1 collaboration

Christina E Hoei-Hansen 1 collaboration

Matthew A Deardorff 1 collaboration

Gordana Raca 1 collaboration

Catherine Quindipan 1 collaboration

Michele van Hirtum-Das 1 collaboration

Jeroen Breckpot 1 collaboration

Trine Bjørg Hammer 1 collaboration

Andrea Whitney 1 collaboration

Andrew G L Douglas 1 collaboration

Mira Kharbanda 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Manuela Morleo 1 collaboration

Vincenzo Nigro 1 collaboration

Halie J May 1 collaboration

James X Tao 1 collaboration

Emanuela Argilli 1 collaboration

Elliot H Sherr 1 collaboration

William B Dobyns 1 collaboration

None None 1 collaboration

Richard A Baines 1 collaboration

Jim Warwicker 1 collaboration

J Alex Parker 1 collaboration

Siddharth Banka 1 collaboration

Philippe M Campeau 1 collaboration

Andrew Escayg 1 collaboration

Ilaria Parenti 1 collaboration

Elsa Leitão 1 collaboration

Alma Kuechler 1 collaboration

Laurent Villard 1 collaboration

Cyril Goizet 1 collaboration

Cécile Courdier 1 collaboration

Allan Bayat 1 collaboration

Alessandra Rossi 1 collaboration

Sophie Julia 1 collaboration

Ange-Line Bruel 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Sophie Nambot 1 collaboration

Daphné Lehalle 1 collaboration

Marjolaine Willems 1 collaboration

James Lespinasse 1 collaboration

Jamal Ghoumid 1 collaboration

Roseline Caumes 1 collaboration

Salima El Chehadeh 1 collaboration

Marie-Thérèse Abi-Warde 1 collaboration

Boris Keren 1 collaboration

Alexandra Afenjar 1 collaboration

Anne-Claude Tabet 1 collaboration

Jonathan Levy 1 collaboration

Anna Maruani 1 collaboration

Waltraud Garming 1 collaboration

Clara Milleret-Pignot 1 collaboration

Anna Chassevent 1 collaboration

Marije Koopmans 1 collaboration

Richard Person 1 collaboration

Rebecca Belles 1 collaboration

Gary Bellus 1 collaboration

Bonnie A Salbert 1 collaboration

Frank J Kaiser 1 collaboration

Laure Mazzola 1 collaboration

Philippe Convers 1 collaboration

Laurine Perrin 1 collaboration

Amélie Piton 1 collaboration

Gert Wiegand 1 collaboration

Andrea Accogli 1 collaboration

Francesco Brancati 1 collaboration

Fabio Benfenati 1 collaboration

Nicolas Chatron 1 collaboration

David Lewis-Smith 1 collaboration

Rhys H Thomas 1 collaboration

Gaetan Lesca 1 collaboration

Christel Depienne 1 collaboration